The group of IGHV1-2 includes 7 alleles, 7 out of the alleles are functional.

For each allele we counted the number of appearances across the population, any appearance was considered valid.

Based on the viewd alleles, we calculated the distance between the germline sequences.

To examine the potential cutoff we observed the sequence depth for each allele

We set an initial cutoff of \(0.5%\) to determine the potential genotype priors. For this cutoff we examined the zygousity state, such as homozygousity, heterozygousity and so on.

With the selected cutoff we saw that there are 4 zygousity states.

From the plots we can that the homozygous alleles 02 and 04. However, in an heterozygous state the tradoff between the allele differ by the combinations.

Allele 04 tend to be less dominante when coupled with another allele, making the observation we see closer to \(1\) in state 2 to be incorect and they should be homozygous.

Allele 02 when coupled with either allele 06 or 07 there is an equal allelic usage.

Allele 05 is lowly expressed in all combinations and state, making him a suspect of mis-assignment. When copuled with allele 04 its relative use is closer to \(0.1\) but the amount of sequences is quit low.

Allele 06 seems to have high usage when in combinations with other alleles, hence it is less likely that in states 3 and 4 it will apear in such low usage. In those cases we can speculate of a mis-assignment, which could be allele 05, it’s closeset allele.

From the results we belive that the cutoff for this group should be closer to \(2%\), and for the adjusted states the allele combinations and the relations are stated in the table below.